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Tbio Sodium/potassium/calcium exchanger 1

Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

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Property Summary

NCBI Gene PubMed Count 14
PubMed Score 57.09
PubTator Score 36.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 2.96687806781437E-8
osteosarcoma 7933 5.61268676100754E-6
glioblastoma 5572 1.27898841842127E-4
lung cancer 4473 4.42619017168177E-4
group 4 medulloblastoma 1875 6.01497430784725E-4
medulloblastoma, large-cell 6234 6.83561349478799E-4
adult high grade glioma 2148 0.00274396000863338
subependymal giant cell astrocytoma 2287 0.0258027525047088
non primary Sjogren syndrome sicca 840 0.0276105666620482
Disease Target Count Z-score Confidence
Brain Ischemia 87 3.473 1.7

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -2.058 0.000
posterior fossa group A ependymoma 1.400 0.000
glioblastoma 1.100 0.000
medulloblastoma, large-cell 1.100 0.001
lung cancer -2.100 0.000
adult high grade glioma 1.100 0.003
group 4 medulloblastoma 1.300 0.001
non primary Sjogren syndrome sicca -1.100 0.028
subependymal giant cell astrocytoma 1.285 0.026

Synonym

Accession O60721 O43485 O75184 Q17RM9
Symbols NCKX
RODX
NCKX1
CSNB1D
HsT17412

Gene

SLC24A1

PANTHER Protein Class (1)

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum EggNOG Inparanoid

 GO Function (6)

 GO Component (4)

 GO Process (6)

 Compartment GO Term (15)

 MGI Term (2)

 HCA RNA Cell Line (56)

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Pathway (10)

 UniProt Keyword (20)

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Gene RIF (3)

PMID Text
25505242 The interaction of HIV-1 CA with human cellular solute carrier family 24, member 1 protein (SLC24A1) is identified by yeast two-hybrid screen
20850105 A mutation in SLC24A1 is implicated in autosomal-recessive congenital stationary night blindness.
18976975 Knockdown of solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells

AA Sequence 

MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSE      1 - 70
EMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERR     71 - 140
KEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMET    141 - 210
SHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNN    211 - 280
LFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSP    281 - 350
RTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL    351 - 420
SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQI    421 - 490
SEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFR    491 - 560
DVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSK    561 - 630
PGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGA    631 - 700
RAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETE    701 - 770
EKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE    771 - 840
AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAI    841 - 910
YLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAA    911 - 980
GTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFL    981 - 1050
MLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV                        1051 - 1099
//

Text Mined References (17)

PMID Year Title
20850105 2010 A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14770312 2004 The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond.
12693957 2003 Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs.
12600216 2003 Topology of the retinal cone NCKX2 Na/Ca-K exchanger.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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